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Focal cortical dysplasia: an update on diagnosis and treatment
Renzo Guerrini1, Carmen Barba1
1Neuroscience Department, Children's Hospital Meyer-University of Florence, Florence, Italy.
Introduction:
Focal cortical dysplasias (FCDs) represent the most common etiology in pediatric drug-resistant focal epilepsies undergoing surgical treatment. The localization, extent and histopathological features of FCDs are considerably variable. Somatic mosaic mutations of genes that encode proteins in the PI3K-AKTmTOR pathway, which also includes the tuberous sclerosis associated genes TSC1 and TSC2, have been implicated in FCD type II in a substantial subset of patients. Surgery is the principal therapeutic option for FCD-related epilepsy. Advanced neurophysiological and neuroimaging techniques have improved surgical outcome and reduced the risk of postsurgical deficits. Pharmacological MTOR inhibitors are being tested in clinical trials and might represent an example of personalized treatment of epilepsy based on the known mechanisms of disease, used alone or in combination with surgery.
Areas Covered:
This review will critically analyze the advances in the diagnosis and treatment of FCDs, with a special focus on the novel therapeutic options prompted by a better understanding of their pathophysiology.
Expert Opinion:
Focal cortical dysplasia is a main cause of drug-resistant epilepsy, especially in children. Novel, personalized approaches are needed to more effectively treat FCD-related epilepsy and its cognitive consequences.
Insights
Focal cortical dysplasias (FCDs) are a leading cause of drug-resistant epilepsy in children. Understanding their genetic basis and utilizing advanced diagnostics and mTOR inhibitors offers new personalized treatment avenues.
Area of Science:
- Neuroscience
- Genetics
- Epileptology
Background:
- Focal cortical dysplasias (FCDs) are the primary cause of drug-resistant epilepsy in pediatric patients requiring surgery.
- FCDs exhibit significant variability in location, extent, and histopathology.
- Somatic mosaic mutations in the PI3K-Akt mTOR pathway, including TSC1 and TSC2 genes, are implicated in FCD type II.
Purpose of the Study:
- To critically review advancements in the diagnosis and treatment of FCDs.
- To highlight novel therapeutic strategies informed by FCD pathophysiology.
- To address the need for personalized treatments for FCD-related epilepsy and cognitive impairments.
Main Methods:
- Literature review of diagnostic and therapeutic advances in FCDs.
- Analysis of current understanding of FCD pathophysiology.
- Examination of emerging treatment options, including mTOR inhibitors.
Main Results:
- FCDs are a significant challenge in pediatric epilepsy surgery.
- Advanced neuroimaging and neurophysiological techniques improve surgical outcomes.
- Targeting the PI3K-Akt mTOR pathway shows promise for personalized epilepsy treatment.
Conclusions:
- Focal cortical dysplasia is a major cause of pediatric drug-resistant epilepsy.
- Personalized treatment approaches are crucial for managing FCD-related epilepsy and cognitive deficits.
- Understanding FCD mechanisms opens doors for targeted therapies, potentially combined with surgery.
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